| Literature DB >> 9375917 |
M Tsukahara1, Y Kuroki, K Imaizumi, Y Miyazawa, K Matsuo.
Abstract
We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had typical Kabuki make-up syndrome. The proposita died at age 6 months. Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity.Entities:
Mesh:
Year: 1997 PMID: 9375917
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299